Research
Targeting Genes
Until the 1980s, little was known about the cause of any neuromuscular disease. In 1986, MDA-supported researchers identified a single gene on the X chromosome that leads to Duchenne muscular dystrophy (DMD) when it is mutated (flawed). In 1987, the protein associated with that gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.
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The State of Gene-Targeted Therapies
The first full day of MDA’s Clinical & Scientific Conference included a highly anticipated session that took a deep dive into gene-targeted therapies. Experts discussed how gene-replacement, gene-silencing and gene-editing therapies are being studied and tested for treating patients with a variety of neuromuscular diseases (NMDs).
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Ongoing Clinical Trials
During the second day of the 2019 MDA Clinical & Scientific Conference, 14 scientists and clinicians shared exciting updates from the pipeline of clinical trials. Below are highlights from the session.At the time of the conference, Zolgensma (onasemnogene abeparvovec-xioi, or AVXS-101) was under review by the U.S. Food and Drug Administration (FDA). In May, the FDA approved the drug as a therapy for the treatment of children younger than age 2 with spinal muscular atrophy (SMA).
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From Drug Discovery to Delivery
MDA was honored to have Janet Woodcock, M.D., director of the Center for Drug Evaluation and Research (CDER) at the U.S. Food and Drug Administration (FDA), present the keynote address at MDA’s 2019 Clinical & Scientific Conference. Her department, the CDER, oversees most human trials with investigational drugs — those not yet approved or not approved for a particular indication —– and conducts post-market safety surveillance for all drugs on the market to see if new safety findings occur once the drug is being widely used.
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News on LEMS Treatment and Research
In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle — the neuromuscular junction — and interferes with the ability of nerve cells to send signals to muscle cells.Specifically, the attack targets the calcium channels on nerve endings that are required to trigger the release of acetylcholine, a chemical messenger that triggers muscle contraction. With fewer calcium channels, the nerve endings release less acetylcholine. With low levels of acetylcholine, muscles do not contract normally, resulting in muscle weakness.
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How Drugs Are Developed
Have you ever wondered what has to happen for the scientific community and pharmaceutical industry to develop a new drug and get it on the market, where physicians can prescribe it to treat a neuromuscular disease? Estimates vary, but it’s safe to say that, on average, out of 10,000 experimental compounds, one drug may make it to pharmacy shelves, and it will take at least 10 years and more than $1 billion to get it there.
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Chipping In
In 2017, PGA Tour golfer Morgan Hoffmann surprised the sports world by revealing that he had been diagnosed with facio-scapulohumeral muscular dystrophy (FSHD). Hoffmann made the announcement in an article for The Players’ Tribune, where he reflected on his career, his feelings about the diagnosis and his thoughts about the future. Recently, Quest followed up with Hoffmann.
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Progress Now Winter 2018
In November, MDA announced 13 new MDA research and development grants, with a total funding commitment of $3.5 million, that are now supporting research projects around the world. The new projects cover a broad range of diseases in MDA’s program and are intended to impact the greater neuromuscular disease landscape.
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Progress Now Fall 2017
Researchers are looking for people with ALS, as well as others with motor neuron disease, and healthy volunteers to participate in the Answer ALS: Individualized Initiative for ALS Discovery study, sponsored by Johns Hopkins University School of Medicine. Goals of the study include creation of a large repository of induced pluripotent stem cells (iPSCs), motor neuron cell lines and bio-fluid samples for comprehensive genetics and data analyses. The biological data collected for the trial will be combined with clinical measures of ALS symptoms and progression.
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Game On
Participating in a clinical trial often means meeting some stringent requirements. One common requirement is the six-minute walk test, which measures the distance walked in six minutes and which may be used to help determine whether a drug is having an effect. This requirement can be a challenge for some individuals with neuromuscular diseases.
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